Severe early onset ethylmalonic encephalopathy with West syndrome

Laura Papetti, Giacomo Garone, Livia Schettini, Carla Giordano, Francesco Nicita, Paola Papoff, Massimo Zeviani, Vincenzo Leuzzi, Alberto Spalice

Research output: Contribution to journalArticlepeer-review


Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain. High levels of lactic, ethylmalonic and methylsuccinic acids are detected in body fluids. EE is caused by mutations in ETHE1 gene, a mitochondrial sulfur dioxygenase. Neurologic signs and symptoms include progressively delayed development, hypotonia, seizures, and abnormal movements. We report on the clinical, electroencephalographic and MRI findings of a baby with a severe early onset encephalopathy associated with novel ETHE1 gene mutation. This is the first case described in literature with an early pure epileptic onset, presenting with West syndrome.

Original languageEnglish
Pages (from-to)1537-1545
Number of pages9
JournalMetabolic Brain Disease
Issue number6
Publication statusPublished - Dec 1 2015


  • ETHE1
  • Ethylmalonic encephalopathy
  • West syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Biochemistry
  • Cellular and Molecular Neuroscience


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